Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.247424492C>T | CA281117 | NLRP3 | c.1043C>T (p.Thr348Met) c.908C>T (p.Thr303Met) c.1049C>T (p.Thr350Met) n.1224C>T | ClinVar dbSNP |
1 | g.247424492C= | CA1142421394 | NLRP3 | c.1043C= (p.Thr348=) c.908C= (p.Thr303=) c.1049C= (p.Thr350=) n.1224C= | dbSNP |